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A genetic analysis involving about 200 people with acute myeloid leukemia has cataloged most of the mutations associated with the blood cancer, researchers reported in The New England Journal of Medicine. Leukemia cells averaged 13 mutations, many fewer than are seen with solid tumor cancers, according to researchers from Washington University in St. Louis. Access to the "genetic playbook" could help guide treatment decisions, a researcher said.

Related Summaries

Having mutations in the GATA1 gene can put children with Down syndrome at a higher risk of developing a myeloid proliferation problem called transient abnormal myelopoiesis, according to Japanese researchers. They found that children with Down syndrome who developed acute megakaryoblastic leukemia had additional alterations in other possible driver genes, including those in epigenetic and signaling pathways. The findings appear in the journal Nature Genetics.

Researchers collaborating on the NIH's Cancer Genome Atlas project are discovering similar mutations in different cancers, which could change how cancer is treated. For example, researchers report commonalities in certain types of breast, ovarian and endometrial cancers, as well as a similar mutation in some endometrial and colon cancers that disables a DNA repair mechanism. In another arm of the project, researchers studied 200 acute myeloid leukemias and identified common genetic malfunctions that will guide treatment decisions.

A study showed that people with myelodysplastic syndrome and a missense mutation in the U2AF1 gene are at higher risk of developing secondary acute myeloid leukemia. This discovery, along with other research, "raises the possibility that mutations in splicing factors, including U2AF1, may be responsible for the observed alterations of splicing in cancer," researchers wrote online in the journal Nature Genetics.

U.S. scientists said they sequenced the genome of a 38-year-old man with acute myeloid leukemia and identified gene variations that occur in brain tumor patients and those with other types of cancer. The study suggests that the gene mutations are linked to cancer growth and progression, they said.

Kidney cancer treatment sorafenib lowered the median percentage of leukemia cells circulating in the blood and in the bone marrow in acute myeloid leukemia patients carrying a genetic mutation active in the disease, U.S. researchers on Tuesday revealed. "AML patients with this mutation have a particularly poor prognosis, so this highly targeted drug appears to be a significant step forward in leukemia therapy," a senior study author said.